Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease

Bangtao Li; Weiming Chen; Xiaodi Cai; Yuanping Hai; Qiming Pang; Wei Xiang; Zhengzheng Zhang

doi:10.3389/fimmu.2024.1381472

Case report: Non-EBV associated cerebral vasculitis and cerebral hemorrhage in X-linked lymphoproliferative disease

Front Immunol. 2024 Apr 25:15:1381472. doi: 10.3389/fimmu.2024.1381472. eCollection 2024.

Authors

Bangtao Li¹, Weiming Chen², Xiaodi Cai², Yuanping Hai³, Qiming Pang¹, Wei Xiang^{1

4}, Zhengzheng Zhang²

Affiliations

¹ Hainan Women and Children's Medical Center, Pediatric Hospital, Fudan University, Haikou, China.
² Children's Hospital of Fudan University, National Center for Children's Medicine, Shanghai, China.
³ Department of Endocrinology and Metabolism, Shunde Hospital, Southern Medical University, The First People's Hospital of Shunde, Foshan, China.
⁴ Key Laboratory of Tropical Diseases Prevention and Control, National Health Care Commission, Hainan Medical University, Haikou, China.

Abstract

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder characterized by immune dysregulation. The three most common clinical phenotypes are EBV-associated infectious mononucleosis (FIM), abnormal gammaglobulinemia, and lymphoma. We present a rare case of XLP1 with neurovasculitis, which is non-EBV-related and involves multiple systems, a condition rarely seen in children. The patient initially presented with an unsteady gait, which progressively evolved into language and consciousness disorders. Additionally, CT scans revealed multiple nodules in the lungs. Subsequent genetic testing and brain tissue biopsy confirmed the diagnosis: XLP1-related cerebral vasculitis and cerebral hemorrhage. Tragically, during the diagnostic process, the child experienced a sudden cerebral hemorrhage and herniation, ultimately resulting in fatality. This case offers a comprehensive insight into XLP1-related cerebral vasculitis and cerebral hemorrhage, underscoring the significance of early diagnosis and prompt treatment, while also imparting valuable clinical experience and lessons to the medical community.

Keywords: SH2D1A gene; X-linked lymphoproliferative disorders; case report; cerebral hemorrhage; cerebral vasculitis.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cerebral Hemorrhage* / diagnosis
Cerebral Hemorrhage* / etiology
Fatal Outcome
Humans
Lymphoproliferative Disorders* / complications
Lymphoproliferative Disorders* / diagnosis
Lymphoproliferative Disorders* / genetics
Male
Vasculitis, Central Nervous System* / diagnosis
Vasculitis, Central Nervous System* / etiology

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. Project supported by Hainan Province Clinical Medical Center(QWYH202175) and Shanghai Municipal Health System key supporting discipline projects (2023ZDFC0103).